Results 141 to 150 of about 122,453 (313)

OGFRL1 Deficiency Causes Chronic Recurrent Multifocal Osteomyelitis Via Pathologic Osteoclastogenesis, With Therapeutic Response to Tumor Necrosis Factor Inhibitor

Arthritis &Rheumatology, EarlyView.
Objective To verify the pathogenesis of the opioid growth factor receptor like‐1 (OGFRL1) loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a patient with chronic recurrent multifocal osteomyelitis (CRMO) and to investigate the underlying mechanism.
Wen Xiong, Yusha Wang, Tingyan He, Jinjian Fu, Ying Luo, Jinbo Wang, Jun Wang, Xiaomin Yu, Qing Zhou, Jun Yang   +9 more
wiley   +1 more source

Evaluation of potential of targeted sequencing through mutational signature simulation.

PLoS ONE
BackgroundTargeted sequencing is critical in cancer diagnosis, treatment selection, and monitoring. However, the effectiveness of these methods for reflecting whole-exome sequencing (WES)-level mutational signatures remains unclear.
Keisuke Kodama, Yiwei Ling, Hiroshi Ichikawa, Toshifumi Wakai, Shujiro Okuda   +4 more
doaj   +1 more source

Association of Clonal Hematopoiesis With Incident, Late‐Onset, Seropositive Rheumatoid Arthritis

Arthritis &Rheumatology, EarlyView.
Objective Clonal hematopoiesis (CH), defined by acquired driver mutations in hematopoietic stem cells, is associated with many inflammatory diseases of aging. We investigated whether CH and its subtypes, CH of indeterminate potential (CHIP) and mosaic chromosomal alteration (mCA), are associated with incident rheumatoid arthritis (RA) and whether ...
Kun Zhao, Yash Pershad, J. Brett Heimlich, Michelle Ormseth, C. Michael Stein, Brian Sharber, Caitlyn Vlasschaert, Alexander G. Bick, Robert W. Corty   +8 more
wiley   +1 more source

A practical method to detect SNVs and indels from whole genome and exome sequencing data [PDF]

, 2013
Daichi Shigemizu, Akihiro Fujimoto, Shintaro Akiyama, Tetsuo Abe, Kaoru Nakano, Keith A. Boroevich, Yujiro Yamamoto, Mayuko Furuta, Michiaki Kubo, Hidewaki Nakagawa, Tatsuhiko Tsunoda   +10 more
openalex   +1 more source

A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still Disease–Like Autoinflammatory Syndrome

Arthritis &Rheumatology, EarlyView.
Objective Still disease represents a prototypical polygenic systemic autoinflammatory disease, characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still disease remains unreported.
Longfang Chen, Qihua Dai, Yu Xiao, Jialin Dai, Mengyan Wang, Yuning Ma, Yujie Shen, Zhimo Xu, Jianfen Meng, Xia Chen, Da Yi, Yue Sun, Hui Shi, Honglei Liu, Xiaobing Cheng, Yutong Su, Junna Ye, Huihui Chi, Zhuochao Zhou, Tingting Liu, Jialin Teng, Chengde Yang, Jinchao Jia, Qiongyi Hu   +23 more
wiley   +1 more source

ANK1 and EPB41 Variants and the Risk of Steroid‐Induced Osteonecrosis

Arthritis &Rheumatology, EarlyView.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen, Xianmin Zhu, Zhongzhong Chen, Wei Chen, Hussam Alkaissi, Zeng Zhang, Yun Gao, Junhui Yin, Xiangtian Yu, Qiong Fu, Youshui Gao, Zhenzhong Zhu, Qianying Cai, Pengwei Zhang, Weibin Chen, Xin Zhao, Xiaojin Wu, Karel Pacak, Dongxu Jin, Chunde Bao, Zhengping Zhuang, Changqing Zhang   +21 more
wiley   +1 more source

Additional file 4: of Interpreting whole genome and exome sequencing data of individual gastric cancer samples

, 2017
Daniela Esser, Niklas Holze, Jochen Haag, Stefan Schreiber, Sandra Krüger, Viktoria S. Warneke, Philip Rosenstiel, Christoph Röcken   +7 more
openalex   +2 more sources

A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome

npj Genomic Medicine
Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding DNA regions and helps elucidate the genetic underpinnings of human health and diseases.
Claude Bhérer, Robert Eveleigh, Katerina Trajanoska, Janick St-Cyr, Antoine Paccard, Praveen Nadukkalam Ravindran, Elizabeth Caron, Nimara Bader Asbah, Peyton McClelland, Clare Wei, Iris Baumgartner, Marc Schindewolf, Yvonne Döring, Danielle Perley, François Lefebvre, Pierre Lepage, Mathieu Bourgey, Guillaume Bourque, Jiannis Ragoussis, Vincent Mooser, Daniel Taliun   +20 more
doaj   +1 more source

Precision medicine in paediatrics: Progress and priorities

British Journal of Clinical Pharmacology, EarlyView.
Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain, Claire Booth, Joseph F. Standing, Charlotte I. S. Barker   +3 more
wiley   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology
Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood.
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van derWesthuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
doaj   +1 more source